Rare Disease Library

Delayed membranous cranial ossification

Gonzales-del Angel syndrome

2q13 microdeletion syndrome

del2q13 syndrome

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

Angelman syndrome

Anti-glomerular basement membrane disease

Anti-GBM syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

Grange syndrome

Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Thymoma-hypogammaglobulinemia syndrome

Good syndrome